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Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1


Gregor, A; Albrecht, B; Bader, I; Bijlsma, E K; Ekici, A B; Engels, H; Hackmann, K; Horn, D; Hoyer, J; Klapecki, J; Kohlhase, J; Maystadt, I; Nagl, S; Prott, E; Tinschert, S; Ullmann, R; Wohlleber, E; Woods, G; Reis, A; Rauch, A; Zweier, C (2011). Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Medical Genetics, 12:106.

Abstract

We report on patients with heterozygous defects in CNTNAP2 or NRXN1 associated with severe intellectual disability, which has only been reported for recessive defects before. These results expand the spectrum of phenotypic severity in patients with heterozygous defects in either gene. The large variability between severely affected patients and mildly affected or asymptomatic carrier parents might suggest the presence of a second hit, not necessarily located in the same gene.

Abstract

We report on patients with heterozygous defects in CNTNAP2 or NRXN1 associated with severe intellectual disability, which has only been reported for recessive defects before. These results expand the spectrum of phenotypic severity in patients with heterozygous defects in either gene. The large variability between severely affected patients and mildly affected or asymptomatic carrier parents might suggest the presence of a second hit, not necessarily located in the same gene.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:2011
Deposited On:06 Jan 2012 15:45
Last Modified:17 Feb 2018 14:11
Publisher:BioMed Central
ISSN:1471-2350
OA Status:Gold
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:https://doi.org/10.1186/1471-2350-12-106
PubMed ID:21827697

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